[Translocation trisomy 4q in 2 siblings as a sequela of paternal balanced reciprocal translocation: t(1;4)(q44;q31)].
In a sister and a brother with striking similarity of facial dysplasias, severe disturbance of expressive speech, and mild mental retardation a partial trisomy of the long arm of chromosome 4 was identified as cause of these anomalies. The partial trisomy 4q was due to a balanced translocation between the chromosomes 1 and 4 in the father of both children.
Bode
H
H
Universitäts-Kinderspital, Basel.
Bühler
E M
EM
Wyler
F
F
Hadzilselimovic
F
F
D000015:Abnormalities, Multiple / Q000235:genetics*; D002675:Child, Preschool; D002871:Chromosome Banding; D002878:Chromosomes, Human, Pair 1; D002894:Chromosomes, Human, Pair 4; D005147:Facial Bones / Q000002:abnormalities*; D005220:Fathers; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics*; D007805:Language Development Disorders / Q000235:genetics; D008297:Male; D014178:Translocation, Genetic / Q000235:genetics*; D014314:Trisomy
Translokationstrisomie 4q bei zwei Geschwistern als Folge einer väterlichen balancierten reziproken Translokation: t(1;4)(q44;q31).